UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.73418248C>A | CA357245013 | ALB | c.1589C>A (p.Thr530Lys) c.1244C>A (p.Thr415Lys) c.1013C>A (p.Thr338Lys) c.*868C>A (n.*868C>A) n.243C>A c.1139C>A (p.Thr380Lys) n.1136C>A c.1122C>A c.950C>A (p.Thr317Lys) | |
| 4 | g.73418248C>G | CA357245017 | ALB | c.1589C>G (p.Thr530Arg) c.1244C>G (p.Thr415Arg) c.1013C>G (p.Thr338Arg) c.*868C>G (n.*868C>G) n.243C>G c.1139C>G (p.Thr380Arg) n.1136C>G c.1122C>G c.950C>G (p.Thr317Arg) | dbSNP |
| 4 | g.73418248C>T | CA357245018 | ALB | c.1589C>T (p.Thr530Ile) c.1244C>T (p.Thr415Ile) c.1013C>T (p.Thr338Ile) c.*868C>T (n.*868C>T) n.243C>T c.1139C>T (p.Thr380Ile) n.1136C>T c.1122C>T c.950C>T (p.Thr317Ile) | |
| 4 | g.73418249A= | CA1468146935 | ALB | c.1590A= (p.Thr530=) c.1245A= (p.Thr415=) c.1014A= (p.Thr338=) c.*869A= (n.*869A=) n.244A= c.1140A= (p.Thr380=) n.1137A= c.1123A= c.951A= (p.Thr317=) | |
| 4 | g.73418249A>C | CA439948409 | ALB | c.1590A>C (p.Thr530=) c.1245A>C (p.Thr415=) c.1014A>C (p.Thr338=) c.*869A>C (n.*869A>C) n.244A>C c.1140A>C (p.Thr380=) n.1137A>C c.1123A>C c.951A>C (p.Thr317=) | |
| 4 | g.73418249A>G | CA99710533 | ALB | c.1590A>G (p.Thr530=) c.1245A>G (p.Thr415=) c.1014A>G (p.Thr338=) c.*869A>G (n.*869A>G) n.244A>G c.1140A>G (p.Thr380=) n.1137A>G c.1123A>G c.951A>G (p.Thr317=) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.73418249A>T | CA439948410 | ALB | c.1590A>T (p.Thr530=) c.1245A>T (p.Thr415=) c.1014A>T (p.Thr338=) c.*869A>T (n.*869A>T) n.244A>T c.1140A>T (p.Thr380=) n.1137A>T c.1123A>T c.951A>T (p.Thr317=) | gnomAD v4 |
| 4 | g.73418250T>A | CA357245020 | ALB | c.1591T>A (p.Phe531Ile) c.1246T>A (p.Phe416Ile) c.1015T>A (p.Phe339Ile) c.*870T>A (n.*870T>A) n.245T>A c.1141T>A (p.Phe381Ile) n.1138T>A c.1124T>A c.952T>A (p.Phe318Ile) | |
| 4 | g.73418250T>C | CA357245022 | ALB | c.1591T>C (p.Phe531Leu) c.1246T>C (p.Phe416Leu) c.1015T>C (p.Phe339Leu) c.*870T>C (n.*870T>C) n.245T>C c.1141T>C (p.Phe381Leu) n.1138T>C c.1124T>C c.952T>C (p.Phe318Leu) | |
| 4 | g.73418250T>G | CA357245024 | ALB | c.1591T>G (p.Phe531Val) c.1246T>G (p.Phe416Val) c.1015T>G (p.Phe339Val) c.*870T>G (n.*870T>G) n.245T>G c.1141T>G (p.Phe381Val) n.1138T>G c.1124T>G c.952T>G (p.Phe318Val) | |
| 4 | g.73418251T>A | CA357245027 | ALB | c.1592T>A (p.Phe531Tyr) c.1247T>A (p.Phe416Tyr) c.1016T>A (p.Phe339Tyr) c.*871T>A (n.*871T>A) n.246T>A c.1142T>A (p.Phe381Tyr) n.1139T>A c.1125T>A c.953T>A (p.Phe318Tyr) | |
| 4 | g.73418251T>C | CA357245029 | ALB | c.1592T>C (p.Phe531Ser) c.1247T>C (p.Phe416Ser) c.1016T>C (p.Phe339Ser) c.*871T>C (n.*871T>C) n.246T>C c.1142T>C (p.Phe381Ser) n.1139T>C c.1125T>C c.953T>C (p.Phe318Ser) | gnomAD v4 |
| 4 | g.73418251T>G | CA357245031 | ALB | c.1592T>G (p.Phe531Cys) c.1247T>G (p.Phe416Cys) c.1016T>G (p.Phe339Cys) c.*871T>G (n.*871T>G) n.246T>G c.1142T>G (p.Phe381Cys) n.1139T>G c.1125T>G c.953T>G (p.Phe318Cys) | |
| 4 | g.73418252C>A | CA357245033 | ALB | c.1593C>A (p.Phe531Leu) c.1248C>A (p.Phe416Leu) c.1017C>A (p.Phe339Leu) c.*872C>A (n.*872C>A) n.247C>A c.1143C>A (p.Phe381Leu) n.1140C>A c.1126C>A c.954C>A (p.Phe318Leu) | dbSNP |
| 4 | g.73418252C>G | CA357245038 | ALB | c.1593C>G (p.Phe531Leu) c.1248C>G (p.Phe416Leu) c.1017C>G (p.Phe339Leu) c.*872C>G (n.*872C>G) n.247C>G c.1143C>G (p.Phe381Leu) n.1140C>G c.1126C>G c.954C>G (p.Phe318Leu) | dbSNP |
| 4 | g.73418252C>T | CA439948411 | ALB | c.1593C>T (p.Phe531=) c.1248C>T (p.Phe416=) c.1017C>T (p.Phe339=) c.*872C>T (n.*872C>T) n.247C>T c.1143C>T (p.Phe381=) n.1140C>T c.1126C>T c.954C>T (p.Phe318=) | dbSNP COSMIC |
| 4 | g.73418253A= | CA1468146936 | ALB | c.1594A= (p.Thr532=) c.1249A= (p.Thr417=) c.1018A= (p.Thr340=) c.*873A= (n.*873A=) n.248A= c.1144A= (p.Thr382=) n.1141A= c.1127A= c.955A= (p.Thr319=) | |
| 4 | g.73418253A>C | CA357245045 | ALB | c.1594A>C (p.Thr532Pro) c.1249A>C (p.Thr417Pro) c.1018A>C (p.Thr340Pro) c.*873A>C (n.*873A>C) n.248A>C c.1144A>C (p.Thr382Pro) n.1141A>C c.1127A>C c.955A>C (p.Thr319Pro) | gnomAD v4 |
| 4 | g.73418253A>G | CA357245052 | ALB | c.1594A>G (p.Thr532Ala) c.1249A>G (p.Thr417Ala) c.1018A>G (p.Thr340Ala) c.*873A>G (n.*873A>G) n.248A>G c.1144A>G (p.Thr382Ala) n.1141A>G c.1127A>G c.955A>G (p.Thr319Ala) | |
| 4 | g.73418253A>T | CA357245043 | ALB | c.1594A>T (p.Thr532Ser) c.1249A>T (p.Thr417Ser) c.1018A>T (p.Thr340Ser) c.*873A>T (n.*873A>T) n.248A>T c.1144A>T (p.Thr382Ser) n.1141A>T c.1127A>T c.955A>T (p.Thr319Ser) | dbSNP |
| 4 | g.73418254C>A | CA357245053 | ALB | c.1595C>A (p.Thr532Asn) c.1250C>A (p.Thr417Asn) c.1019C>A (p.Thr340Asn) c.*874C>A (n.*874C>A) n.249C>A c.1145C>A (p.Thr382Asn) n.1142C>A c.1128C>A c.956C>A (p.Thr319Asn) | |
| 4 | g.73418254C>G | CA357245054 | ALB | c.1595C>G (p.Thr532Ser) c.1250C>G (p.Thr417Ser) c.1019C>G (p.Thr340Ser) c.*874C>G (n.*874C>G) n.249C>G c.1145C>G (p.Thr382Ser) n.1142C>G c.1128C>G c.956C>G (p.Thr319Ser) | dbSNP |
| 4 | g.73418254C>T | CA357245055 | ALB | c.1595C>T (p.Thr532Ile) c.1250C>T (p.Thr417Ile) c.1019C>T (p.Thr340Ile) c.*874C>T (n.*874C>T) n.249C>T c.1145C>T (p.Thr382Ile) n.1142C>T c.1128C>T c.956C>T (p.Thr319Ile) | dbSNP |
| 4 | g.73418255C>A | CA439948412 | ALB | c.1596C>A (p.Thr532=) c.1251C>A (p.Thr417=) c.1020C>A (p.Thr340=) c.*875C>A (n.*875C>A) n.250C>A c.1146C>A (p.Thr382=) n.1143C>A c.1129C>A c.957C>A (p.Thr319=) | |
| 4 | g.73418255C>G | CA439948413 | ALB | c.1596C>G (p.Thr532=) c.1251C>G (p.Thr417=) c.1020C>G (p.Thr340=) c.*875C>G (n.*875C>G) n.250C>G c.1146C>G (p.Thr382=) n.1143C>G c.1129C>G c.957C>G (p.Thr319=) | dbSNP |
| 4 | g.73418255C>T | CA439948414 | ALB | c.1596C>T (p.Thr532=) c.1251C>T (p.Thr417=) c.1020C>T (p.Thr340=) c.*875C>T (n.*875C>T) n.250C>T c.1146C>T (p.Thr382=) n.1143C>T c.1129C>T c.957C>T (p.Thr319=) | |
| 4 | g.73418256T>A | CA357245057 | ALB | c.1597T>A (p.Phe533Ile) c.1252T>A (p.Phe418Ile) c.1021T>A (p.Phe341Ile) c.*876T>A (n.*876T>A) n.251T>A c.1147T>A (p.Phe383Ile) n.1144T>A c.1130T>A c.958T>A (p.Phe320Ile) | |
| 4 | g.73418256T>C | CA2959689 | ALB | c.1597T>C (p.Phe533Leu) c.1252T>C (p.Phe418Leu) c.1021T>C (p.Phe341Leu) c.*876T>C (n.*876T>C) n.251T>C c.1147T>C (p.Phe383Leu) n.1144T>C c.1130T>C c.958T>C (p.Phe320Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.73418256T>G | CA357245060 | ALB | c.1597T>G (p.Phe533Val) c.1252T>G (p.Phe418Val) c.1021T>G (p.Phe341Val) c.*876T>G (n.*876T>G) n.251T>G c.1147T>G (p.Phe383Val) n.1144T>G c.1130T>G c.958T>G (p.Phe320Val) | |
| 4 | g.73418256T= | CA1468146937 | ALB | c.1597T= (p.Phe533=) c.1252T= (p.Phe418=) c.1021T= (p.Phe341=) c.*876T= (n.*876T=) n.251T= c.1147T= (p.Phe383=) n.1144T= c.1130T= c.958T= (p.Phe320=) | |
| 4 | g.73418257T>A | CA357245063 | ALB | c.1598T>A (p.Phe533Tyr) c.1253T>A (p.Phe418Tyr) c.1022T>A (p.Phe341Tyr) c.*877T>A (n.*877T>A) n.252T>A c.1148T>A (p.Phe383Tyr) n.1145T>A c.1131T>A c.959T>A (p.Phe320Tyr) | |
| 4 | g.73418257T>C | CA357245069 | ALB | c.1598T>C (p.Phe533Ser) c.1253T>C (p.Phe418Ser) c.1022T>C (p.Phe341Ser) c.*877T>C (n.*877T>C) n.252T>C c.1148T>C (p.Phe383Ser) n.1145T>C c.1131T>C c.959T>C (p.Phe320Ser) | |
| 4 | g.73418257T>G | CA357245066 | ALB | c.1598T>G (p.Phe533Cys) c.1253T>G (p.Phe418Cys) c.1022T>G (p.Phe341Cys) c.*877T>G (n.*877T>G) n.252T>G c.1148T>G (p.Phe383Cys) n.1145T>G c.1131T>G c.959T>G (p.Phe320Cys) | |
| 4 | g.73418258C>A | CA357245083 | ALB | c.1599C>A (p.Phe533Leu) c.1254C>A (p.Phe418Leu) c.1023C>A (p.Phe341Leu) c.*878C>A (n.*878C>A) n.253C>A c.1149C>A (p.Phe383Leu) n.1146C>A c.1132C>A c.960C>A (p.Phe320Leu) | dbSNP |
| 4 | g.73418258C= | CA1468146940 | ALB | c.1599C= (p.Phe533=) c.1254C= (p.Phe418=) c.1023C= (p.Phe341=) c.*878C= (n.*878C=) n.253C= c.1149C= (p.Phe383=) n.1146C= c.1132C= c.960C= (p.Phe320=) | |
| 4 | g.73418258C>G | CA2959690 | ALB | c.1599C>G (p.Phe533Leu) c.1254C>G (p.Phe418Leu) c.1023C>G (p.Phe341Leu) c.*878C>G (n.*878C>G) n.253C>G c.1149C>G (p.Phe383Leu) n.1146C>G c.1132C>G c.960C>G (p.Phe320Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.73418258C>T | CA439948415 | ALB | c.1599C>T (p.Phe533=) c.1254C>T (p.Phe418=) c.1023C>T (p.Phe341=) c.*878C>T (n.*878C>T) n.253C>T c.1149C>T (p.Phe383=) n.1146C>T c.1132C>T c.960C>T (p.Phe320=) | dbSNP |
| 4 | g.73418259del | CA2706483270 | ALB | c.1600del (p.His534MetfsTer24) c.1255del (p.His419MetfsTer24) c.1024del (p.His342MetfsTer24) c.*879del (n.*879del) n.254del c.1150del (p.His384MetfsTer24) n.1147del c.1133del c.961del (p.His321MetfsTer24) | dbSNP |
| 4 | g.73418259C>A | CA357245090 | ALB | c.1600C>A (p.His534Asn) c.1255C>A (p.His419Asn) c.1024C>A (p.His342Asn) c.*879C>A (n.*879C>A) n.254C>A c.1150C>A (p.His384Asn) n.1147C>A c.1133C>A c.961C>A (p.His321Asn) | dbSNP |
| 4 | g.73418259C>G | CA357245094 | ALB | c.1600C>G (p.His534Asp) c.1255C>G (p.His419Asp) c.1024C>G (p.His342Asp) c.*879C>G (n.*879C>G) n.254C>G c.1150C>G (p.His384Asp) n.1147C>G c.1133C>G c.961C>G (p.His321Asp) | dbSNP |
| 4 | g.73418259C>T | CA357245100 | ALB | c.1600C>T (p.His534Tyr) c.1255C>T (p.His419Tyr) c.1024C>T (p.His342Tyr) c.*879C>T (n.*879C>T) n.254C>T c.1150C>T (p.His384Tyr) n.1147C>T c.1133C>T c.961C>T (p.His321Tyr) | dbSNP |
| 4 | g.73418260A= | CA1468146944 | ALB | c.1601A= (p.His534=) c.1256A= (p.His419=) c.1025A= (p.His342=) c.*880A= (n.*880A=) n.255A= c.1151A= (p.His384=) n.1148A= c.1134A= c.962A= (p.His321=) | |
| 4 | g.73418260A>C | CA357245107 | ALB | c.1601A>C (p.His534Pro) c.1256A>C (p.His419Pro) c.1025A>C (p.His342Pro) c.*880A>C (n.*880A>C) n.255A>C c.1151A>C (p.His384Pro) n.1148A>C c.1134A>C c.962A>C (p.His321Pro) | gnomAD v4 |
| 4 | g.73418260A>G | CA2959691 | ALB | c.1601A>G (p.His534Arg) c.1256A>G (p.His419Arg) c.1025A>G (p.His342Arg) c.*880A>G (n.*880A>G) n.255A>G c.1151A>G (p.His384Arg) n.1148A>G c.1134A>G c.962A>G (p.His321Arg) | dbSNP ExAC gnomAD v4 |
| 4 | g.73418260A>T | CA357245102 | ALB | c.1601A>T (p.His534Leu) c.1256A>T (p.His419Leu) c.1025A>T (p.His342Leu) c.*880A>T (n.*880A>T) n.255A>T c.1151A>T (p.His384Leu) n.1148A>T c.1134A>T c.962A>T (p.His321Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.73418265_73418274dup | CA645517865 | ALB | c.1606_1615dup (p.Thr539ArgfsTer7) c.1261_1270dup (p.Thr424ArgfsTer7) c.1030_1039dup (p.Thr347ArgfsTer7) c.*885_*894dup (n.*885_*894dup) n.260_269dup c.1156_1165dup (p.Thr389ArgfsTer7) n.1153_1162dup c.1139_1148dup c.967_976dup (p.Thr326ArgfsTer7) | COSMIC |
| 4 | g.73418260_73418261insATGCAGATAT | CA645517866 | ALB | c.1601_1602insATGCAGATAT (p.His534GlnfsTer12) c.1256_1257insATGCAGATAT (p.His419GlnfsTer12) c.1025_1026insATGCAGATAT (p.His342GlnfsTer12) c.*880_*881insATGCAGATAT (n.*880_*881insATGCAGATAT) n.255_256insATGCAGATAT c.1151_1152insATGCAGATAT (p.His384GlnfsTer12) n.1148_1149insATGCAGATAT c.1134_1135insATGCAGATAT c.962_963insATGCAGATAT (p.His321GlnfsTer12) | COSMIC |
| 4 | g.73418261T>A | CA357245113 | ALB | c.1602T>A (p.His534Gln) c.1257T>A (p.His419Gln) c.1026T>A (p.His342Gln) c.*881T>A (n.*881T>A) n.256T>A c.1152T>A (p.His384Gln) n.1149T>A c.1135T>A c.963T>A (p.His321Gln) | dbSNP |
| 4 | g.73418261T>C | CA439948416 | ALB | c.1602T>C (p.His534=) c.1257T>C (p.His419=) c.1026T>C (p.His342=) c.*881T>C (n.*881T>C) n.256T>C c.1152T>C (p.His384=) n.1149T>C c.1135T>C c.963T>C (p.His321=) | |
| 4 | g.73418261T>G | CA357245111 | ALB | c.1602T>G (p.His534Gln) c.1257T>G (p.His419Gln) c.1026T>G (p.His342Gln) c.*881T>G (n.*881T>G) n.256T>G c.1152T>G (p.His384Gln) n.1149T>G c.1135T>G c.963T>G (p.His321Gln) |